Genomic Profiling of Genetic and Rare Diseases

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

1500 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-11-05

Study Completion Date

2030-02-28

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs. The Italian healthcare system has recognized these challenges, leading to initiatives like a national Rare Diseases (RD) registry, a comprehensive list of Rare Diseases (RDs) eligible for healthcare exemptions, and the establishment of a National Committee for Rare Diseases. Research on the genetic mechanisms of Rare Diseases (RDs) is robust, particularly for innovative therapies, and ranks second to oncology.

The Policlinico Universitario A. Gemelli IRCCS Foundation serves as a key reference institute for Rare Diseases (RD) in Lazio, managing over 10,000 patients through accredited centers. A recent initiative aims to enhance the Rare Diseases network by integrating genomic knowledge with clinical practice. The project focuses on utilizing Next Generation Sequencing (NGS) for early genetic diagnosis, promoting personalized medicine.

Given the challenges the National Health Service faces in resource allocation for Rare Diseases (RD) and the recent approval of a new outpatient healthcare tariff, this initiative is timely. The foundation seeks to replace targeted genetic tests with Whole Exome Sequencing (WES), increasing the identification of molecular conditions and reducing diagnostic turnaround times.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

NCT04152876

Rare Diseases

UNKNOWN

PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

NCT06796751

Whole Exome Sequencing Rare Diseases

RECRUITING

Multi-Omics and IPSCs to Improve Diagnosis of Rare Intellectual Disabilities

NCT03635294

Rare Intellectual Disabilities

COMPLETED NA

Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

NCT05996731

Atypical Hemolytic Uremic Syndrome Membranoproliferative Glomerulonephritis Autosomal Dominant Polycystic Kidney +1 more

RECRUITING NA

Rare and Undiagnosed Disease Research Biorepository

NCT04703179

Undiagnosed Disease Rare Diseases

ENROLLING_BY_INVITATION

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Rare Diseases Genetic Disease

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients

Patients with suspected rare or specific genetic diseases diagnosed based on clinical presentation and instrumental examination performed by geneticist or by a specialist physician experienced in the specific condition (e.g., phenotype associated with a known genetic syndrome, known neuromuscular disease, or known specific regional disease such as hypertrophic/dilated cardiomyopathy) are enrolled to undergo genetic testing for diagnostic purposes and to improve personalized treatment.

Group Type EXPERIMENTAL

Whole Exome Sequencing (WES)

Intervention Type GENETIC

Blood samples, buccal swabs, and pathological tissue samples (skin/muscle) will be collected, and subsequently, DNA extracted from those tissues will be used for genomic analysis using Whole Exome Sequencing. The sample will follow the diagnostic pipeline already established inside the hospital. Moreover, the remaning aliquots of DNA extracted from the tissue (peripheral blood or tissue specimen) will be sent by the Genomics core facility to the Biobank for storage upon analysis completion.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Whole Exome Sequencing (WES)

Blood samples, buccal swabs, and pathological tissue samples (skin/muscle) will be collected, and subsequently, DNA extracted from those tissues will be used for genomic analysis using Whole Exome Sequencing. The sample will follow the diagnostic pipeline already established inside the hospital. Moreover, the remaning aliquots of DNA extracted from the tissue (peripheral blood or tissue specimen) will be sent by the Genomics core facility to the Biobank for storage upon analysis completion.

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Age 0-90 years
* Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
* Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
* Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
* Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.